Nathalie syndrome

Preferred Label : Nathalie syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In 4 sibs (one named Nathalie) of a Dutch family reported by Cremers et al. (1975), deafness and cataract were associated with muscular atrophy, retardation in growth and sexual development, and electrocardiographic abnormalities. One was male and 3 female. One had Perthes disease and one had Scheuermann disease. Two were young adults at the time of study. *FIELD* RF 1. Cremers, C. W. R. J.; ter Haar, B. G. A.; Van Rens, T. J. G.: The Nathalie syndrome. A new hereditary syndrome. Clin. Genet. 8: 330-340, 1975. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 255990;

Details

Origin ID

255990;

UMLS CUI

C1850626;

Currated CISMeF NLP mapping
- Deafness with cataract and skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Nathalie syndrome [MeSH concept]
- Nathalie syndrome [ORDO Disease]
- nathalie syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal EKG [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Deafness [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Nathalie syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness with cataract and skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Nathalie syndrome [ORDO Disease]
- Nathalie syndrome [MeSH concept]
- nathalie syndrome [MeSH Supplementary Concept]

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